Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ABCA12	gene	ABCA12	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 4A, 601277;Ichthyosis, autosomal recessive 4B (harlequin), 242500						False	3	100;0;0	1.15	True		ENSG00000144452	ENSG00000144452	HGNC:14637													
ALDH3A2	gene	ALDH3A2	Expert Review;Expert Review Green	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Sjogren-Larsson syndrome, OMIM:270200				9829906;16476818;25784589;27547594;29071827;29183715;29375833;29704247;30157790;30403285;31273323;31388754;31944864;32930514;34082469;34315315		False	3	100;0;0	1.15	False		ENSG00000072210	ENSG00000072210	HGNC:403													
ALOX12B	gene	ALOX12B	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 2, 242100						False	3	100;0;0	1.15	True		ENSG00000179477	ENSG00000179477	HGNC:430													
ALOXE3	gene	ALOXE3	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 3, 606545						False	3	100;0;0	1.15	True		ENSG00000179148	ENSG00000179148	HGNC:13743													
CERS3	gene	CERS3	Expert Review Green;Radboud University Medical Center, Nijmegen	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 9, 615023				23754960;23549421		False	3	100;0;0	1.15	True		ENSG00000154227	ENSG00000154227	HGNC:23752													
CYP4F22	gene	CYP4F22	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 5, 604777						False	3	100;0;0	1.15	True		ENSG00000171954	ENSG00000171954	HGNC:26820													
NIPAL4	gene	NIPAL4	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 6, 612281						False	3	100;0;0	1.15	True		ENSG00000172548	ENSG00000172548	HGNC:28018													
PNPLA1	gene	PNPLA1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 10, 615024				24344921;6691440;26778108		False	3	100;0;0	1.15	True		ENSG00000180316	ENSG00000180316	HGNC:21246													
SDR9C7	gene	SDR9C7	Expert Review Green;Literature	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	"Ichthyosis, congenital, autosomal recessive 13	617574"				28173123; 28369735		False	3	100;0;0	1.15	False		ENSG00000170426	ENSG00000170426	HGNC:29958													
SLC27A4	gene	SLC27A4	Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis prematurity syndrome, 608649						False	3	100;0;0	1.15	True		ENSG00000167114	ENSG00000167114	HGNC:10998													
ST14	gene	ST14	Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400						False	3	100;0;0	1.15	True		ENSG00000149418	ENSG00000149418	HGNC:11344													
STS	gene	STS	Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Ichthyosis, X-linked, 308100						False	3	0;0;100	1.15	True		ENSG00000101846	ENSG00000101846	HGNC:11425													
SULT2B1	gene	SULT2B1	Expert Review Green;Literature	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 14, OMIM:617571;Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091				28575648		False	3	100;0;0	1.15	False		ENSG00000088002	ENSG00000088002	HGNC:11459													
TGM1	gene	TGM1	Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 1, 242300						False	3	100;0;0	1.15	True		ENSG00000092295	ENSG00000092295	HGNC:11777													
ISCA-37417-Loss	region		Expert Review Green;ClinGen	Autosomal recessive congenital ichthyosis	Ichthyoses	Dermatological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ichthyosis, X-linked;308100						False	3	0;0;0	1.15	False					X			6537771	8156913				3		60	cnv_loss	Xp22.31 recurrent region (includes STS) Loss